This variant was initially reported in three individuals and one family with various forms of cancer (prostate/papillary thyroid/colorectal), and with a frequency of 0.005 in the Cancer500 panel. Its lack of functional significance and polymorphic frequency raised doubts as to its association with cancer.

Hypothesized to cause intellectual disability in a dominant fashion, but findings had no statistical significance and were contracted by the presence of the same variant in the father of the patient, who was apparently unaffected. Cells expressing this variant gene demonstrated reduced cell-cell adhesion in a Ca2+ assay (which was the proposed mechanism causing intellectual disability). However the reported frequency of this variant in patients matches its frequency in the population on the whole (as measured by EVS data), which contradicts the pathogenic hypothesis.